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Updated: Jun 21, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Nonsense mutation in DEPDC5 gene in a patient with carbamazepine-responsive focal epilepsy

Grainne Mulkerrin1, Michael J Hennessy1

  • 1Department of Neurology, Galway University Hospital, Ireland.

Epilepsy & Behavior Reports
|July 10, 2024
PubMed

Insights

DEPDC5 mutations can cause drug-resistant epilepsy. This study describes carbamazepine responsiveness in DEPDC5-related epilepsy, offering insights into mTOR pathway regulation and treatment options.

Area of Science:

  • Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • The mTOR pathway is crucial for cellular regulation.
  • DEPDC5 acts as a negative regulator of the mTOR pathway.
  • Mutations in DEPDC5 are linked to neurological disorders.

Observation:

  • DEPDC5 mutations are associated with sleep-related hypermotor epilepsy (SHE).
  • Epilepsy in this cohort is frequently refractory to conventional treatments.
  • This study focuses on the specific epilepsy phenotype linked to DEPDC5.

Findings:

  • DEPDC5 mutations are a cause of epilepsy.
  • Carbamazepine responsiveness was observed in patients with DEPDC5-related epilepsy.
  • This suggests a potential therapeutic target within the mTOR pathway.

Implications:

  • Understanding DEPDC5's role in mTOR signaling can inform epilepsy treatment.
  • Carbamazepine may be an effective treatment for DEPDC5-related epilepsy.
  • Further research into DEPDC5 and epilepsy is warranted.

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